Polymorphism of Methionine Synthase Gene in Nuclear Families of Congenital Heart Disease

Objective To investigate the relation of methionine synthase (MS) gene variation with congenital heart disease (CHD) phenotype. Methods One hundred and ninety three CHD patients (94 males and 99 females) and their biological parents (nuclear families) in Liaoning Province were selected as the case group, and another 104 normal persons (60 males and 44 females) and their parents without family history of birth defects as the control group. For all subjects the polymorphism of MS gene A2756G locus was examined by PCR-RFLP method. Results In offspring of the control group the frequencies of MS genotype (+/ -) and allele (+) were 10.7% and 5.3%, without existence of homozygote. The MS genotype distribution and allele frequencies of CHD patients and their mothers were not significantly different from the control (P > 0.05). The frequency of allele (+) in case fathers (5.0 %) was apparently lower than that in the control (9.1%, P=0.060), and the odds ratio (OR) was 0.53 (95% CI: 0.25-1.09). There was no difference in parents' genotype combination between the two groups, and in genotype distribution among different types of CHD. Analysis of genetic transmission indicated that mutation allele (+) existed transmission disequilibrium in CHD nuclear families. The percentage of allele (+) transmitted from parents was lower than that allele (-) with OR 0.26 (95% CI: 0.11-0.60). Conclusion MS gene variation in parents is associated with occurrence of CHD in offspring, and mutation allele (+) in parents may be related with the decrease of CHD risk in offspring.

Relationship Between Polymorphism of Methylenetetrahydrofolate Dehydrogenase and Congenital Heart Defect

To investigate the relationship between G1958A gene polymorphism of methylenetetrahydrofolate dehydrogenase (MTHFD) and occurrence of congenital heart disease (CHD) in North China. Methods One hundred and ninety-two CHD patients and their parents were included in this study as case group in Liaoning Province by birth defect registration cards, and 124 healthy subjects (age and gender matched) and their parents were simultaneously selected from the same geographic area as control. Their gene polymorphism of MTHFD G1958A locus was examined with PCR-RFLP, and serum folic acid and homocysteine (Hcy) levels were tested with radio-immunoassay and fluorescence polarization immunoassay (FPIA). Results There existed gene polymorphism at MTHFD G1958A locus in healthy subjects living in North China. The percentages of GG, GA, and AA genotype were 57.98%, 35.57%, and 6.45% respectively, and the A allele frequency was 24.23%, which was significantly different from Western population. No difference was observed when comparing genotype distribution and allele frequency between the case and control groups, so was the result from the comparison between genders. The A allele frequency of arterial septal defect patients’ mothers (10.87%) was significantly lower than that of controls (28.15%) (P=0.014), with OR=0.31 (95% CI: 0.09-0.84), and no difference in the other subgroups. The percentage of at least one parent carrying A allele in arterial septal defect subgroup (43.48%) was significantly lower than that in controls (69.64%) (P=0.017), with OR=0.34 (95% CI: 0.12-0.92). The analysis of genetic transmission indicated that there was no transmission disequillibrium in CHD nuclear families. Their serum folic acid level was significantly higher than that of controls (P=0.000), and Hcy level of the former was higher than that of the latter with no statistical significance (P>0.05). Serum Hcy and folic acid levels of mothers with gene mutation were lower than those of mothers with no mutation. Conclusion No significant difference of genotype distribution and allele frequency existed between CHD patients and healthy population. MTHFD G1958A mutation in parents (particularly in mother) can decrease the risk of arterial septal defect in offspring. The possible mechanism of protection might be mutation, which can increase MTHFD enzyme activity, folic acid metabolism and homocysteine remethylation, and decrease Hcy level.

Long-term outcome of esophageal myotomy for achalasia

AIM:Modified Heller's myotomy is still the first choice for achalasia and the assessment of surgical outcomes is usually made based on the subjective sensation of patients.This study was to objectively assess the long-term outcomes of esophageal myotomy for achalasia using esophageal manometry, 24-hour pH monitoring,esophageal scintigraphy and fiberoptic esophagoscopy.METHODS:From February 1979 to October 2000, 176 patients with achalasia underwent modified Heller's myotomy, including esophageal myotomy alone in 146 patients, myotomy in combination with Gallone or Dor antirefiux procedure in 22 and 8 patients, respectively. Clinical score,pressure of the lower esophageal sphincter (LES),esophageal clearance rate and gastroesophageal reflux were determined before and i to 22 years after surgery.RESULTS: After a median follow-up of 14 years, 84.5% of patients had a good or excellent relief of symptoms,and clinical scores as well as resting pressures of the esophageal body and LES were reduced compared with preoperative values (P<0.001).However,there was no significant difference in DeMeester score between pre-and postoperative patients(P=0.51).Esophageal transit was improved in postoperative patients, but still slower than that in normal controls. The incidence of gastroesophageal reflux in patients who underwent esophageal myotomy alone was 63.6% compared to 27.3% in those who underwent myotomy and antirefiux procedure (P=-0.087). Three (1.7%) patients were complicated with esophageal cancer after surgery.CONCLUSION: Esophageal myotomy for achalasia can reduce the resting pressures of the esophageal body and LES and improve esophageal transit and dysphagia. Myotomy in combination with antireflux procedure can prevent gastroesophageal reflux to a certain extent,but further randomized studies should be carried out to demonstrate its efficacy.

Somatostatin receptor subtype 2-mediated scintigraphy and localization using ^(99m)Tc-HYNIC-Tyr^3-octreotide in human hepatocellular carcinoma-bearing nude mice

AIM: To investigate the uptake of 99mTc-HYNIC-Tyr3-octreotide (99mTc-HYNIC-TOC) in human hepatocellular carcinoma (HCC), which can provide the localizable diagnosis in hepatic carcinoma.METHODS: The expression of somatostatin receptor 2(SSTR2) messenger RNA (mRNA) in human HCC cell line HepG2 was examined by reverse transcriptase-polymerase chain reaction (RT-PCR). Uptake of 99mTc-HYNIC-TOC was evaluated in the human HCC implanted into BALB/c nude mice. ANMIS2000 nuclear medicine analysis system was used to calculate the ratio of 99mTC uptake between tumor tissue and vital organs.RESULTS: We demonstrated the expression of SSTR2mRNA in human HCC cell line HepG2 by RT-PCR. The size of the RT-PCR products was 364 bp detected by sequence analysis of the human SSTR2 mRNA. Scintigraphy proved that 99mTc-HYNIC-TOC was uptaken in the tumor tissue,liver and kidney of the tumor-bearing mice.CONCLUSION: Based on expression of the SSTR2 mRNA in human NCC, 99mTc-NYNIC-TOC can markedly bind with and be uptaken by human HCC tissues as compared with normal liver tissue. The significant retention of radionuclide in kidney and bladder is probably related to non-specific peptide uptake in the tubulus cells of kidney and possibly due to excretion by kidney. Our results show that localizable diagnosis and targeting radiotherapy with radionuclidelabeled somatostatin analog for HCC are of great value to be further studied.

Effects of Dietary Intervention on Hyperlipidemia in Eight Communities of Beijing, China

To examine the effect of community-based dietary intervention on hyperlipidemia. Methods A total of 180 hyperlipidemia individuals with TG>2.26 mmol稬-1(200 mg穌L-1)and/or TC>5.72 mmol稬-1 (220 mg穌L-1) were selected from 428 eligible subjects in eight communities of Beijing. They were randomly divided into intervention group (n=108) and control group (n=72). Dietary intervention was provided for the intervention group for 6 months. Information on dietary intakes, physical examinations and blood samples was collected. Serum lipids were assayed at baseline and endpoint of the study period. Results Respective decrease in dietary intake of total calories, fat, cholesterol and cooking oil by 13.62%, 24.75%, 24.40%, and 22.43%, in the intervention group was observed. The percentages of total calories from fat, carbohydrate and protein appeared to be desirable after study. Reduced body weight and BMI were also observed. There was a respective 5.61% and 7.06 % decrease in total serum cholesterol and low-density lipoprotein cholesterol in the intervention group, while no significant changes were found in the control group. Conclusions Community-based dietary intervention can effectively improve dietary patterns, control body weight, and decrease the levels of total serum cholesterol and low-density lipoprotein cholesterol.

Pilot biomechanical design of biomaterials for artificial nucleus prosthesis using 3D finite-element modeling

Pilot biomechanical design of biomaterials for artificial nucleus prosthesiswas carried out based on the 3D finite-element method. Two 3D models of lumbar intervertebral discrespectively with a real human nucleus and with the nucleus removed were developed and validatedusing published experimental and clinical data. Then the models with a stainless steel nucleusprosthesis implanted and with polymer nucleus prostheses of various properties implanted were usedfor the 3D finite-element biomechanical analysis. All the above simulation and analysis were carriedout for the L4/L5 disc under a human worst--daily compression load of 2000 N. The results show thatthe polymer materials with Young's modulus of elasticity E = 0.1-100 MPa and Poisson's ratio v=0.35-0.5 are suitable to produce artificial nucleus prosthesis in view of biomechanicalconsideration.

蒙药古日古木-13味丸治疗酒精性肝炎临床研究

目的探讨蒙药古日古木-13味丸治疗酒精性肝炎的临床疗效。方法选择医院2020年1月至2021年1月收治的酒精性肝炎患者60例,按随机数字表法分为研究组和对照组,各30例。对照组患者给予常规治疗,在此基础上,研究组患者给予蒙药古日古木-13味丸治疗。两组患者均治疗4周。结果研究组总有效率为93.33%,显著高于对照组的80.00%(P<0.05);治疗后,两组患者丙氨酸氨基转移酶(ALT)、天门冬氨酸氨基转移酶(AST)、谷氨酰胺转移酶(GGT)水平均显著下降,且研究组显著低于对照组(P<0.05);两组患者社会、躯体、环境、心理评分均显著升高,且研究组显著高于对照组(P<0.05);两组患者焦虑、抑郁等不良心理状态评分显著降低,且研究组显著低于对照组(P<0.05);观察组患者的不良反应发生率为10.00%,显著低于对照组的26.67%(P<0.05)。结论蒙药古日古木-13味丸治疗酒精性肝炎可有效改善患者的肝功能指标,提升疗效,改善患者的生活质量,降低不良反应发生率,改善焦虑、抑郁等不良负性心理状态。

MCM7在人下咽癌细胞系FaDu中的表达及作用研究

目的:研究MCM7在下咽癌中的表达及作用,为下咽癌的发病机制研究和治疗提供新靶点。方法:利用Real-time PCR检测MCM7在人下咽癌细胞系FaDu中的表达。siRNA沉默FaDu细胞中的MCM7后,利用划痕实验检测FaDu的细胞迁移能力。利用TCGA数据库和生物信息学方法建立头颈部鳞癌中MCM7的共表达基因网络并分析其功能和通路。结果:(1)FaDu细胞表达MCM7基因。(2)利用siRNA成功沉默了FaDu中的MCM7,划痕实验提示MCM7沉默后FaDu的细胞迁移能力显著下降(P<0.05)。(3)建立头颈部鳞癌中MCM7的共表达基因网络,并发现该网络功能主要包括:DNA复制、DNA损伤修复、细胞周期和细胞增殖等。网络基因主要富集在细胞周期、DNA复制和错配修复等通路中(P<0.05)。结论:MCM7在下咽癌细胞中表达,并且可能通过影响细胞的DNA复制、细胞周期等功能来影响下咽癌的细胞迁移能力。

Attribute Mathematical Model for Comprehensive Index System＇ Quality Evaluation for Natural Science Academic Journals

Journal evaluation is a compliated engineering system, how to evaluate academic journals more scientifically in scientific methods have becomes a problem of great concerns. This paper presents attribute mathematical model for comprehensive index system' quality evaluation for natural science academic journals, aiming to make comprehensive index system' quality evaluation for academic journals more objective and reasonable compared with other quantitative evaluation ways.